Incidental Mutation 'IGL01366:Slc7a8'
ID75936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a8
Ensembl Gene ENSMUSG00000022180
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 8
SynonymsLAT2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.475) question?
Stock #IGL01366
Quality Score
Status
Chromosome14
Chromosomal Location54722209-54781946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54781188 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 47 (I47N)
Ref Sequence ENSEMBL: ENSMUSP00000022787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022787]
Predicted Effect probably damaging
Transcript: ENSMUST00000022787
AA Change: I47N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022787
Gene: ENSMUSG00000022180
AA Change: I47N

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
Pfam:AA_permease_2 39 463 8.9e-72 PFAM
Pfam:AA_permease 44 469 5.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226646
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
Adck5 A C 15: 76,595,616 *568C probably null Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Ccdc167 T C 17: 29,705,312 E50G probably damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Efr3a T A 15: 65,851,150 I459K probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fam160b2 G A 14: 70,585,373 R688C probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Nphs2 T C 1: 156,311,035 V83A probably benign Het
Parp6 T A 9: 59,636,713 M390K possibly damaging Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Slc7a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Slc7a8 APN 14 54735124 missense probably benign 0.25
R0582:Slc7a8 UTSW 14 54758444 missense probably damaging 1.00
R0724:Slc7a8 UTSW 14 54735186 splice site probably benign
R1122:Slc7a8 UTSW 14 54724107 missense probably benign
R1468:Slc7a8 UTSW 14 54733199 missense probably damaging 1.00
R1468:Slc7a8 UTSW 14 54733199 missense probably damaging 1.00
R1667:Slc7a8 UTSW 14 54724849 missense probably damaging 1.00
R2878:Slc7a8 UTSW 14 54759686 missense probably damaging 1.00
R3826:Slc7a8 UTSW 14 54737572 missense probably damaging 1.00
R3938:Slc7a8 UTSW 14 54735841 missense probably benign 0.01
R4513:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4514:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4524:Slc7a8 UTSW 14 54737602 missense probably damaging 1.00
R4544:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R4546:Slc7a8 UTSW 14 54735790 missense possibly damaging 0.94
R5179:Slc7a8 UTSW 14 54724832 nonsense probably null
R5395:Slc7a8 UTSW 14 54733277 nonsense probably null
R6144:Slc7a8 UTSW 14 54729340 missense probably damaging 1.00
R6537:Slc7a8 UTSW 14 54735119 missense probably benign 0.03
R7337:Slc7a8 UTSW 14 54726806 missense possibly damaging 0.67
R7404:Slc7a8 UTSW 14 54726826 missense probably damaging 1.00
R7597:Slc7a8 UTSW 14 54781400 start gained probably benign
R8188:Slc7a8 UTSW 14 54735122 missense probably benign 0.00
Posted On2013-10-07